13.5.11 Complications

•The most common complications of both Cantwell-Ransley and complete penile disassembly epispadias repair are persistent chordee, urethrocutaneous fistula, and wound dehiscence.

•A complication specific to the Mitchell repair’s complete disassembly technique is glans and/or corporeal ischemia.

•Complications following repair of bladder exstrophy and cloacal exstrophy include:

–Wound dehiscence

–Bladder prolapse

–Bladder outlet obstruction

–Vesicocutaneous fistula

•Complete primary repair of exstrophy may be complicated by penile loss following penile disassembly.

•Intestinal complications following repair of cloacal exstrophy include;

–Ileus

–Volvulus

–Small bowel obstruction

•Augmentation cystoplasty and continent urinary diversion may be complicated by:

–Bladder calculi

–Chronic bacterial colonization

–Epithelial polyps

–Mucus overproduction

–Augmentation cystoplasty may be complicated by metabolic acidosis and carcinoma

–The creation of stoma may be complicated by stenosis, prolapse, ischemia, and leakage

Further Reading

1.Baird AD, Gearhart JP, Mathews RI. Applications of the modified Cantwell-Ransley epispadias repair in the exstrophy-epispadias complex. J Pediatr Urol. 2005;1(5):331–6.

2. Frimberger D. Diagnosis and management of epispadias. Semin Pediatr Surg. 2011;20(2):85–90.

3. Gearhart JP, Jeffs RD. The use of parenteral testosterone therapy in genital reconstructive surgery. J Urol. 1987;138(4):1077–8. Part 2.

4. Gearhart JP, Leonard MP, Burgers JK, Jeffs RD. The Cantwell-Ransley technique for repair of epispadias. J Urol. 1992;148(3):851–4.

5. Gearhart JP, Mathews R. Penile reconstruction combined with bladder closure in the management of classic bladder exstrophy: illustration of technique. Urology. 2000;55(5):764–70.

6.Gearhart JP, Mathews RI. Exstrophy-epispadias complex. In: Wein AJ, Kavoussi LR, Novick AC, Partin AW, Peters CA, editors. Campbell-walsh urology, vol.

4.10th ed. Philadelphia: Elsevier; 2012. p. 3325–78.

7.Grady RW, Mitchell ME. Complete primary repair of exstrophy. J Urol. 1999;162(4):1415–20.

8.Grady RW, Mitchell ME. Management of epispadias. Urol Clin N Am. 2002;29(2):349–60.

9.Mathews R. Achieving urinary continence in cloacal exstrophy. Semin Pediatr Surg. 2011;20(2):126–9.

10.Mitchell ME. Bladder exstrophy repair: complete primary repair of exstrophy. Urology. 2005;65(1):5–8.

11.Mitchell ME, Bägli DJ. Complete penile disassembly for epispadias repair: the mitchell technique. J Urol. 1996;155(1):300–4.

12. Mushtaq I, Garriboli M, Smeulders N, et al. Primary neonatal bladder exstrophy closure in neonates: challenging the traditions. J Urol. 2014;191(1):193–8.

13. Oesterling JE, Jeffs RD. The importance of a successful initial bladder closure in the surgical management of classical bladder exstrophy: analysis of 144 patients treated at the Johns Hopkins hospital between 1975 and 1985. J Urol. 1987;137(2):258–62.

14. Schaeffer AJ, Stec AA, Purves JT, Cervellione RM, Nelson CP, Gearhart JP. Complete primary repair of bladder exstrophy: a single institution referral experience. J Urol. 2011;186(3):1041–6.

15.Shnorhavorian M, Grady RW, Andersen A, Joyner BD, Mitchell ME. Long-term follow-up of complete

primary repair of exstrophy: the seattle experience. J Urol. 2008;180(4, supplement):1615–20.

16. Suson KD, Preece J, Baradaran N, Di Carlo HN, Gearhart JP. The fate of the complete female epispadias and female exstrophy bladder—is there a difference? J Urol. 2013;190(4):1583–9.

17. Zaontz MR, Steckler RE, Shortliffe LMD, Kogan BA, Baskin L, Tekgul S. Multicenter experience with the Mitchell technique for epispadias repair. J Urol. 1998;160(1):172–6.

14.1Introduction

•Berdon syndrome, also called Megacystis- microcolon-intestinal hypoperistalsis syndrome (MMIH syndrome), is an autosomal recessive fatal genetic disorder affecting newborns.

•It is a familial disturbance of unknown etiology.

•It was first described by Walter Berdon et al. in 1976.

•They described the condition in five female infants, two of whom were sisters. All had marked dilatation of the bladder and some had hydronephrosis and the external appearance of prune belly. The infants also had microcolon and dilated small intestines (Fig. 14.1).

•Megacystis microcolon intestinal hypoperistalsis syndrome (MMIHS) is the most severe form of functional intestinal obstruction in the newborn.

•The etiology of MMIHS is unknown.

•Megacystis Microcolon Intestinal Hypoperistalsis Syndrom (MMIHS) is found in females three or four times more than in males.

•It is characterized by (Figs. 14.2, 14.3, 14.4, 14.5, and 14.6):

–A dilated, giant non obstructed urinary bladder (megacystis)

–Urinary retention

–Microcolon

–Hypoperistalsis or absent peristalsis of the gastrointestinal tract leading to functional intestinal obstruction.

–Hydronephrosis

–Dilated small bowel

–The pathological findings consist of an abundance of ganglion cells in both dilated and narrow areas of the intestine.

•MMIHS carries a poor prognosis and most of the cases die within the early months of their lives, nevertheless there are some case reports recently of long-term survival.

•These cases mostly die from malnutrition, sepsis, kidney failure, and liver failure depending on TPN and the complications of TPN.

•In 2011 and in an extensive review of 227 children with the MMIHS, Gosemann and Puri reported a 19.7 % survival rate and the oldest reported survivor was 24 years old. The vast majority of the surviving patients had to be maintained by total or partial parenteral nutrition (TPN). The main causes of death were sepsis, malnutrition and multiple organ failure.

•Prenatal diagnosis of MMIHS is possible by antenatal ultrasound and an antenatal ultrasound finding of an enlarged urinary bladder and intraabdominal mass in a female fetus should alert the treating physicians for MMIHS.

•The usual presentation of newborns with MMIHS is abdominal distension. This is caused by a markedly distended, but nonobstructed urinary bladder. This usually fills the whole abdomen and may reach to the xiphisternum.

Fig. 14.1 A micturating cystourethrogram showing a markedly enlarged urinary bladder. Note also the dilated stomach. There was no evidence of vesicoureteral reflux

DILATED

STOMACH

DILATED

URINARY

BLADDER

DILATED URINARY

BLADDER

Figs. 14.2 and 14.3 Abdominal CT-scans showing a markedly dilated urinary bladder. Note also the associated bilateral hydronephrosis

•Treatment is supportive and involves an ileostomy to defunction the colon, with TPN.

•Multiorgan transplantation is suggested as a valuable alternative for children with severe gastrointestinal dismotility.

Fig. 14.4 An intraoperative clinical photograph showing a markedly dilated urinary balder. Note the thick wall of the enlarged urinary bladder

14.2Etiology

•MMIHS is a rare congenital anomaly inherited as an autosomal recessive and predominantly affects females (4:1 ratio).

•There are however reports of sporadic cases.

•MMIHS is inherited as an autosomal recessive with the gene locus at 15q11.

•The exact etiology of MMIHS is not known.

•There are several theories to explain its pathogenesis but the most commonly accepted etiology is that MMIHS is a form of visceral myopathy.

•This was supported by histological studies which showed smooth muscle myopathy as

the most predominant intestinal manifestation. This affects both the circular and longitudinal layers of the small bowel muscularis propria.

•Histological studies of the myenteric and submucosal plexuses of the bowel of MMIHS patients have found normal ganglion cells in the majority of the patients, decreased in some, hyperganglionosis and giant ganglia in others.

•An imbalance in intestinal peptides was suggested as one of the possible causes of hypoperistalsis.

•Absence of Interstitial Cell of Cajal (Pacemaker cells) in the bowel and urinary bladder has been reported as a causative factor.

•Puri and coworkers showed vacuolar degenerative changes in the smooth muscle cells with abundant connective tissue between muscle cells in the bowel and bladder.

•Several subsequent reports have confirmed evidence of intestinal myopathy in MMIHS.

•MMIHS has been reported with excessive smooth muscle glycogen storage postulating the pathogenesis involving a defect of glycogen-energy utilization.

•Other investigators have reported absence or marked reduction in smooth muscle actin and other contractile and cytoskeletal proteins in the smooth muscle layers of bowel in MMIHS

•Molecular analysis have linked the disease to the

neuronal nicotinic acetylcholine receptor (ηAChR), namely the absence of a functional α3 subunit of the ηAChR, a de novo deletion of the

proximal long arm of chromosome 15 (15q11.2).

•Immunohistochemical staining for smooth muscle actin, however, was selectively absent in the circular layer, demonstrating isolated absence in a unique and previously undescribed pattern. These observations raise the